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1ST Workshop within the frame of the HURO project SCREENGEN 27-29 June 2011
NEWBORN SCREENING - PHENYLKETONURIA, GALACTOSEMIA, HYPOTHYREOSIS AND CONGENITAL ADRENAL HYPERPLASIA
1ST Workshop within the frame of the HURO project SCREENGEN
27-29 June 2011
On the first day of workshop members of LP held presentations on the disorders planned to be included in newborn screening by PP1 and PP2. First, the etiology, clinical symptomes and therapy of the disorders were presented. In the second part, the laboratory techniques for screeninfg and follow up were discussed. One of the presentation dealt with general problems of newborn screening. The presentations were followed by discussions. On the second and third day one colleagues from both PP1 and PP2 remained for a two-day long practical training. They got acquainted with the techniques and instruments used in the screening laboratory of LP and had opportunity to practice the methods
| Time | Program |
|---|---|
| 10:00 - 16:00 | Monday, 27.06.2011
Place: Library, Dept. Pediatrics, University of Szeged, Koranyi fasor 14-15, Szeged, Hungary
10.00 Opening Prof. Dr. Sandor Turi 10.15-10.55. Phenylketonuria and other hyperphenylalaninemias Dr. Gabor Racz 10.55.-11.25. Screening for phenylketonuria - laboratory methods Dr. Peter Monostori Discussion Break 11.45.12.15. Galactosemia Dr. Gabor Racz 12.15.-12.35. Screening for galactosemia - laboratory methods Dr. Melinda Rozsa Discussion Break 14.00-14.40. Hypothyreosis and congenital adrenal hyperplasia Dr. Balazs Gellen 14.40-15.10 Screening for hypothyreosis and CAH, second-tier testing – laboratory methods Dr. Peter Monostori Discussion Break 15.30.-16.00. Newborn screening (sample collection, data evaluation, reporting) Dr. Eszter Karg
Tuesday and Wednesday, 28.-29.06.2011
Place: Screening Laboratory, Dept. Pediatrics, University of Szeged
8.00-14.00. Introduction to the ELISA methods (PKU, galactosemia, hypothyreosis) and the MS/MS analysis (laboratory practice in the Metabolic Screening Lab, Dept. Pediatrics, Univ. Szeged, for 2 colleagues) |